Diagnosis often starts when someone sees their doctor for symptoms, such as fatigue, bleeding problems, difficulty breathing, or persistent infections. For others, abnormal test results during routine physical exams may prompt an investigation into blood disorders like MDS.

Testing for MDS

If you are having symptoms and your doctor suspects a blood disorder, blood tests will help identify any abnormalities in the development or numbers of blood cells. Blood tests can include:

Complete blood count—Measures the number of red blood cells, white blood cells, and platelets. Low numbers of healthy blood cells or high numbers of blasts (immature cells) in the bone marrow may indicate the presence of MDS.

Blood smear—Examines a drop of blood under a microscope to look for abnormalities of the blood cells. Abnormalities include cell counts and genetic markers that may be present or missing.

Tests to evaluate the blood for folate, vitamin B12, iron, or thyroid-stimulating hormone to rule out other diseases.

Flow cytometry and cell marker tests to examine cells for specific characteristics, like proteins.
This may be useful if diagnosis is difficult.

Diagnosis of MDS

The findings from the blood tests can suggest MDS, but a bone marrow test is usually done to confirm the diagnosis.

A bone marrow aspiration removes a sample of bone marrow from the bone. In most cases, the sample is taken from the hipbone. A needle is inserted through the bone and the marrow is removed with a syringe. A piece of bone may also be removed for biopsy.

Both marrow and bone sample will be examined under a microscope to look for the presence of abnormal blood cells (cancer).

Classification of MDS

If MDS is confirmed, the results of the biopsy and new tests will help determine the classification of cancer. This will help to identify characteristics of the cancer. Classification, as well as other information like age and overall health, will help develop the prognosis and treatment plan.

Classification Tests

In-depth testing of blood and tissue samples can help identify the type of MDS and any other specific characteristics. Tests may include:

Most cancers are staged by the presence of tumors, their size, or if it has spread beyond the primary site. MDS affects the bone marrow, which affects the whole body. Traditional staging is not used for MDS, but the disease can be classified by the appearance of the bone marrow and the blood cells, and whether or not certain characteristics are present or missing.

International Prognostic Scoring System

The International Prognostic Scoring System (IPSS) is used in conjunction with another system, the French-American-British classification, which rates 3 factors:

The percentage of blasts in the bone marrow

Chromosomal abnormalities

Results from blood counts

A score is given for each of the 3 factors. The lower the score the better the prognosis. The scores are added together to get an overall IPSS score. There are 4 categories of IPSS scores:

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.